ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.3226G>A (p.Glu1076Lys)

gnomAD frequency: 0.00015  dbSNP: rs202065982
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000864747 SCV001005595 benign Oculofaciocardiodental syndrome 2023-12-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438511 SCV004164839 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing BCOR: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003438511 SCV005276146 benign not provided criteria provided, single submitter not provided
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251681 SCV001427421 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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